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Table 1 The clinical information of patients carrying pathogenic mutations in PPP3CA

From: Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report

Case

Our case

Li et al. 2019

Case 6

Cases summarized by

Qian et al. 2018

Age

2.5y

3y 8 m

8.46y (±7.14)

Gender

M

F

4 M/10F

Mutation

c.1283insC

c.1283insC

multiple variants

Amino acid alteration

p.T429NfsX22

p.T429NfsX22

multiple variants

Mutation type

Frameshift

Frameshift

nonsense/frameshift/missense

Inheritance

De novo

De novo

De novo

Onset age

2y

1y1m

14.18 m (±15.46)

EEG

Slow background waves, PS, GSW, hypsarrhythmia, spasms

hypsarrhythmia, MFD and spasms

including MFD, PS, GSW, Hypsarrhythmia, Abnormal background and other abnormal waveforms

MRI

Normal

Normal

Some are normal. Some presented abnormalities including ventricular dilatation, white matter change and small hippocampal.

Others

Eczema, speech delay

Mild developmental delay, poor speech, and mild hypotonia

  1. *MFD multifocal epileptiform discharges; PS polyspikes; GSW generalized spike and slow waves